RGD:126750089 Rat Genome Database

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Variant: RGD:126750089 -  Homo sapiens

RGD ID: 126750089
RS ID: rs769911912
ClinVar ID: CV1022998
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TGFB2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 218,607,787
GRCh38 1 218,434,445
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.10:g.218607787G>T
NR_138148.2:n.2117G>T
NR_138149.2:n.2201G>T
NP_003229.1:p.Ala251Ser
More... 		08/24/2021 missense variant uncertain significance ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TGFB2
Accession:NM_001135599
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 279
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHYCVLSAFLILHLVTVALSLSTCSTLDMDQFMRKRIEAIRGQILSKLKLTSPPEDYPEPEEVPPEVISIYNSTRDLLQE
KASRRAAACERERSDEEYYAKEVYKIDMPPFFPSETVCPVVTTPSGSVGSLCSRQSQVLCGYLDAIPPTFYRPYFRIVRF
DVSAMEKNASNLVKAEFRVFRLQNPKARVPEQRIELYQILKSKDLTSPTQRYIDSKVVKTRAEGEWLSFDVTDAVHEWLH
HKDRNLGFKISLHCPCCTFVPSNNYIIPNKSEELEARFSGIDGTSTYTSGDQKTIKSTRKKNSGKTPHLLLMLLPSYRLE
SQQTNRRKKRALDAAYCFRNVQDNCCLRPLYIDFKRDLGWKWIHEPKGYNANFCAGACPYLWSSDTQHSRVLSLYNTINP
EASASPCCVSQDLEPLTILYYIGKTPKIEQLSNMIVKSCKCS*

Gene Symbol:TGFB2
Accession:NM_003238
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 251
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHYCVLSAFLILHLVTVALSLSTCSTLDMDQFMRKRIEAIRGQILSKLKLTSPPEDYPEPEEVPPEVISIYNSTRDLLQE
KASRRAAACERERSDEEYYAKEVYKIDMPPFFPSENAIPPTFYRPYFRIVRFDVSAMEKNASNLVKAEFRVFRLQNPKAR
VPEQRIELYQILKSKDLTSPTQRYIDSKVVKTRAEGEWLSFDVTDAVHEWLHHKDRNLGFKISLHCPCCTFVPSNNYIIP
NKSEELEARFSGIDGTSTYTSGDQKTIKSTRKKNSGKTPHLLLMLLPSYRLESQQTNRRKKRALDAAYCFRNVQDNCCLR
PLYIDFKRDLGWKWIHEPKGYNANFCAGACPYLWSSDTQHSRVLSLYNTINPEASASPCCVSQDLEPLTILYYIGKTPKI
EQLSNMIVKSCKCS*

Gene Symbol:TGFB2
Accession:NR_138149
Location:EXON;NON-CODING

Gene Symbol:TGFB2
Accession:NR_138148
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25049390   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001824445 CLINVAR
dbSNP (RS) rs769911912 CLINVAR
MedGen C3553762 CLINVAR
NCBI Gene TGFB2 CLINVAR
OMIM 190220 CLINVAR
  614816 CLINVAR